Cumming W J
J Neurol Sci. 1984 Apr;64(1):73-7. doi: 10.1016/0022-510x(84)90057-1.
The past decade has seen an increasing number of reports of patients suffering from disorders of lipid with major abnormalities of the neuromuscular system. On the basis of these reports it has been suggested that carnitine deficiency can be subdivided into a myopathic form where the deficiency is confined to muscle and a systemic form where there is more wide-spread carnitine depletion. Recent evidence based on clinical and experimental material casts doubt on this rigid subdivision. It is suggested that patients with carnitine deficiency should not be rigorously subdivided until further clarification of the underlying biochemical abnormalities have been undertaken.
在过去十年中,越来越多关于患有脂质紊乱且伴有神经肌肉系统重大异常的患者的报告出现。基于这些报告,有人提出肉碱缺乏症可细分为肌病形式(即缺乏仅限于肌肉)和全身性形式(即存在更广泛的肉碱消耗)。最近基于临床和实验材料的证据对这种严格的细分提出了质疑。建议在对潜在的生化异常进行进一步澄清之前,不应严格细分肉碱缺乏症患者。